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    LMAN1 lectin, mannose binding 1 [ Homo sapiens (human) ]

    Gene ID: 3998, updated on 15-Jun-2019

    Summary

    Official Symbol
    LMAN1provided by HGNC
    Official Full Name
    lectin, mannose binding 1provided by HGNC
    Primary source
    HGNC:HGNC:6631
    See related
    Ensembl:ENSG00000074695 MIM:601567
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MR60; gp58; F5F8D; FMFD1; MCFD1; ERGIC53; ERGIC-53
    Summary
    The protein encoded by this gene is a membrane mannose-specific lectin that cycles between the endoplasmic reticulum, endoplasmic reticulum-Golgi intermediate compartment, and cis-Golgi, functioning as a cargo receptor for glycoprotein transport. The protein has an N-terminal signal sequence, a calcium-dependent and pH-sensitive carbohydrate recognition domain, a stalk region that functions in oligomerization, a transmembrane domain, and a short cytoplasmic domain required for organelle targeting. Allelic variants of this gene are associated with the autosomal recessive disorder combined factor V-factor VIII deficiency. [provided by RefSeq, Jul 2015]
    Expression
    Ubiquitous expression in thyroid (RPKM 65.5), liver (RPKM 54.8) and 25 other tissues See more
    Orthologs

    Genomic context

    See LMAN1 in Genome Data Viewer
    Location:
    18q21.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (59327823..59359276, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (56995055..57026508, complement)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene retina and anterior neural fold homeobox Neighboring gene complexin 4 Neighboring gene uncharacterized LOC107985156 Neighboring gene meiotic recombination hotspot N Neighboring gene collagen and calcium binding EGF domains 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL PubMed
    env Activation of the classical complement pathway by HIV-1 gp120 is initiated by the binding of MBP to carbohydrate side chains of gp120 PubMed
    env Treatment of HIV-1 gp120 with endoglycosidase H (eH) or endoglycosidase F1 (eF1) abrogates binding of MBL PubMed
    env DC-SIGN and MBL bind primarily to glycans on HIV-1 gp120/gp41; preincubation of CXCR4-, CCR5- or dual-tropic HIV-1 strains with MBL prevents DC-SIGN-mediated trans infection of T cells PubMed
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with LMAN1; predicted interaction to be within the endoplasmic reticulum PubMed
    env HIV-1 gp160 is identified to have a physical interaction with lectin, mannose-binding 1 (LMAN1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 is identified to have a physical interaction with lectin, mannose-binding 1 (LMAN1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    env DC-SIGN and MBL bind primarily to glycans on HIV-1 gp120gp41; preincubation of CXCR4-, CCR5- or dual-tropic HIV-1 strains with MBL prevents DC-SIGN-mediated trans infection of T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Asparagine N-linked glycosylation, organism-specific biosystem (from REACTOME)
      Asparagine N-linked glycosylation, organism-specific biosystemN-linked glycosylation is the most important form of post-translational modification for proteins synthesized and folded in the Endoplasmic Reticulum (Stanley et al. 2009). An early study in 1999 rev...
    • COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystem (from REACTOME)
      COPII (Coat Protein 2) Mediated Vesicle Transport, organism-specific biosystemCOPII components (known as Sec13p, Sec23p, Sec24p, Sec31p, and Sar1p in yeast) traffic cargo from the endoplasmic reticulum to the ER-Golgi intermediate compartment (ERGIC). COPII-coated vesicles wer...
    • Cargo concentration in the ER, organism-specific biosystem (from REACTOME)
      Cargo concentration in the ER, organism-specific biosystemComputational analysis suggests that ~25% of the proteome may be exported from the ER in human cells (Kanapin et al, 2003). These cargo need to be recognized and concentrated into COPII vesicles, wh...
    • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
      Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
    • ER to Golgi Anterograde Transport, organism-specific biosystem (from REACTOME)
      ER to Golgi Anterograde Transport, organism-specific biosystemSecretory cargo destined to be secreted or to arrive at the plasma membrane (PM) leaves the ER via distinct exit sites. This cargo is destined for the Golgi apparatus for further processing.
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
      Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
    • Signaling events mediated by TCPTP, organism-specific biosystem (from Pathway Interaction Database)
      Signaling events mediated by TCPTP, organism-specific biosystem
      Signaling events mediated by TCPTP
    • Transport to the Golgi and subsequent modification, organism-specific biosystem (from REACTOME)
      Transport to the Golgi and subsequent modification, organism-specific biosystemAt least two mechanisms of transport of proteins from the ER to the Golgi have been described. One is a general flow requiring no export signals (Wieland et al, 1987; Martinez-Menarguez et al, 1999)....
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    mannose binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    unfolded protein binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    Golgi organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    blood coagulation TAS
    Traceable Author Statement
    more info
    PubMed 
    NOT early endosome to Golgi transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endoplasmic reticulum organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of protein targeting to mitochondrion HMP PubMed 
    positive regulation of organelle organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein N-linked glycosylation via asparagine TAS
    Traceable Author Statement
    more info
     
    NOT protein exit from endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein folding TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    COPII-coated ER to Golgi transport vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Golgi membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    collagen-containing extracellular matrix HDA PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum-Golgi intermediate compartment IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    host cell perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 

    General protein information

    Preferred Names
    protein ERGIC-53
    Names
    ER-Golgi intermediate compartment 53 kDa protein
    endoplasmic reticulum-golgi intermediate compartment protein 53
    intracellular mannose-specific lectin MR60

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012097.1 RefSeqGene

      Range
      5001..36454
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005570.4NP_005561.1  protein ERGIC-53 precursor

      See identical proteins and their annotated locations for NP_005561.1

      Status: REVIEWED

      Source sequence(s)
      AC016229, AC067859, AI280513, AK025773, BC032330, DC308886, U09716
      Consensus CDS
      CCDS11974.1
      UniProtKB/Swiss-Prot
      P49257
      UniProtKB/TrEMBL
      A0A024R2A7
      Related
      ENSP00000251047.4, ENST00000251047.6
      Conserved Domains (1) summary
      cd06902
      Location:44268
      lectin_ERGIC-53_ERGL; ERGIC-53 and ERGL type 1 transmembrane proteins, N-terminal lectin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

      Range
      59327823..59359265 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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